Parkes Weber syndrome / Sindrome de parkes weber

RESUMEN El Síndrome de Parkes Weber se caracteriza por sobrecrecimiento de una extremidad asociado a malformación capilar, venosa, linfática y arteriovenosa. Se presenta el caso de una paciente de 23 años de edad que acudió al Servicio de Dermatología por presentar una úlcera de novodesarrollada sobre malformación capilar congénita.Nos fue posible arribar al diagnóstico utilizando diversos estudios de imágenes, mientras que la medida terapéutica, con el carácter de profilaxis terciaria, consistió en embolizaciones múltiples.

SUMMARY Parkes Weber Syndrome is characterized by overgrowth of a limb with capillary, venous, lymphatic, and arteriovenous malformation. We present the case of a 23-year-old patient who came to the dermatology service for an ulcer on congenital capillary malformation.We were able to arrive at the diagnosis using various imaging studies, while the therapeutic measure, with the character of tertiary prophylaxis, consisted of multiple embolizations.

Cirugía de Young para el tratamiento quirúrgico de la epistaxis en telangiectasia hemorrágica hereditaria: reporte de un caso y revisión de la literatura

La telangiectasia hemorrágica hereditaria (THH) es una displasia vascular multisistémica, de herencia autosómica dominante, caracterizada por el desarrollo de telangiectasias mucocutáneas y malformaciones arteriovenosas viscerales. El diagnóstico se realiza mediante los criterios de Curasao publicados en el año 2000 y su manejo requiere de un equipo multidisciplinario donde el rol del otorrinolaringólogo(a) es fundamental, puesto que la epistaxis se presenta en un 90%-95% de los pacientes siendo una de las primeras manifestaciones clínicas de la enfermedad y pudiendo amenazar la vida del paciente. En la literatura se describen múltiples alternativas de tratamiento médico y quirúrgico para la epistaxis, sin existir un tratamiento definitivo para la enfermedad. A continuación, presentaremos el caso de una paciente de 56 años con THH y epistaxis recurrentes severas que, tras no responder al tratamiento médico conservador y múltiples procedimientos quirúrgicos, se realizó el cierre nasal mediante el procedimiento de Young, constituyendo el primer caso reportado en nuestro país.

Hereditary hemorrhagic telangiectasia (HHT) is a multisystemic vascular dysplasia, of autosomal dominant inheritance, characterized by the development of mucocutaneous telangiectasias and visceral arteriovenous malformations. The diagnosis is made using the Curafao criteria published in 2000 and its management requires a multidisciplinary team where the role of the ENTs is fundamental, since epistaxis occurs in 90%-95% of patients, being one of the first clinical manifestations of the disease and may threaten the life of the patient. Multiple medical and surgical treatment alternatives for epistaxis are described in the literature without a definitive treatment for the disease. Here, we present the case of a 56-year-old patient with severe recurrent HHT and epistaxis who, after not responding to the initial conservative and surgical treatments, a nasal closure was performed, using the Young's procedure, constituting the first case reported in our country.

Síndrome de Sturger Weber. Presentación clínica y manejo terapéutico / Sturger Weber syndrome. Clinical presentation and therapeutic management

RESUMEN La angiomatosis encefalotrigeminal es el más frecuente de los síndromes neurocutáneos con predominio de anomalías vasculares. Es un proceso congénito infrecuente, pero no excepcional, que afecta a uno y otro sexo por igual. Consiste, en su forma completa, en la asociación de anomalías cerebrales, cutáneas y oculares. Se presenta el caso de una paciente de un año de edad, de color de piel blanca, producto de parto eutócico, con peso de 3660 g. Al examen físico se confirmó una hipotonía generalizada, retardo en el desarrollo psicomotor; con hemangioma facial extenso bilateral, hemiparesia derecha, cuadros convulsivos tónico-clónicos. Teniendo en cuenta todos estos elementos y los resultados de una tomografía axial computarizada y un electroencefalograma, se realizó el diagnóstico de un síndrome de Sturge-Weber. La estimulación temprana del lenguaje, la parte motora y cognitiva, el entrenamiento en destrezas motoras finas es el tratamiento fisioterapéutico que debe iniciar en etapa temprana. El presente trabajo tiene como objetivo señalar lo oportuno del tratamiento para un mejor pronóstico y calidad de vida.

ABSTRACT Encephalotrigeminal angiomatosis is the most common of the neurocutaneous syndromes with a predominance of vascular abnormalities. It is a rare, but not exceptional, congenital process that affects both sexes equally. It consists, in its complete form, in the association of brain, skin and eye abnormalities. The case of a 1-year-old female patient, white skin, eutocic birth result, weighing 3660 g is presented. Physical examination confirmed patient with generalized hypotonia, delay in psychomotor development; with extensive bilateral facial hemangioma, right hemiparesis, tonic-clonic convulsive manifestation. Taking into account all these elements, the diagnosis of a Sturge-Weber syndrome is made. The early stimulation of language, the motor and cognitive part, the training in fine motor skills is the physiotherapeutic treatment that should start in an early stage. The objective of this paper is to point out the timeliness of treatment for a better prognosis and quality of life.

Clinical significance of lesion distribution in children with Sturge-Weber syndrome / 中华皮肤科杂志

Objective:To analyze distribution characteristics of facial port-wine stains and brain imaging features in children with Sturge-Weber syndrome (SWS) .Methods:Clinical and imaging data were collected from 22 children with confirmed SWS at Department of Dermatology, Children′s Hospital Affiliated to Capital Institute of Pediatrics from July 2017 to August 2020, and retrospectively analyzed. The distribution characteristics of port-wine stains along the facial trigeminal nerve and brain imaging features were investigated in these children with SWS.Results:Among the 22 children, 10 were males and 12 were females. Their age ranged from 0.08 to 9.92 years, and the median age was 1.67 years. There were 13 cases of SWS type Ⅰ and 9 cases of SWS type Ⅱ. In terms of the port-wine stain type, 4 children aged from 0.50 to 2.17 years were diagnosed with pink port-wine stains; 14 children aged from 0.08 to 8.83 years were diagnosed with purple port-wine stains; 4 children aged from 4.92 to 9.92 years were diagnosed with thickened port-wine stains. Port-wine stains were distributed in the ophthalmic (V1) division of the trigeminal nerve in 22 patients, in the maxillary (V2) division in 20 patients, and in the mandibular (V3) division in 8 patients. There were 17 children with ocular abnormalities, aged from 0.08 to 9.92 years, including 11 with glaucoma, 5 with elevated intraocular pressure and 2 with visual impairment. Among the children with glaucoma, 7 developed glaucoma within 2 years of age, 8 suffered from unilateral glaucoma, and 3 from bilateral glaucoma, and glaucoma occurred on the same side as port-wine stains. Brain imaging abnormalities were observed in 12 children, and mainly included vascular malformations in the cerebral cortex involving the frontal, parietal, temporal and occipital lobes, as well as cerebral atrophy, punctate hemorrhage, calcification, sulcal widening, midline deviation and increased intraventricular choroid plexus vessels. Eleven children had symptoms of epilepsy and other neurological manifestations, including developmental delay, mental retardation and physical impairment.Conclusion:Port-wine stains distributed in the V1 and V2 divisions of the facial trigeminal nerve may indicate a higher risk of SWS, and ophthalmic and brain imaging screening as well as long-term follow-up should be performed.

Clinical and imaging features of 27 cases of childhood Sturge-Weber syndrome / 中华皮肤科杂志

Objective:To analyze clinical and imaging features of Sturge-Weber syndrome in children.Methods:Clinical data were collected from 27 children with Sturge-Weber syndrome in Xuzhou Children′s Hospital, Xuzhou Medical University from July 2013 to December 2019, and analyzed retrospectively.Results:Among the 27 children, 17 were males and 10 were females. Their age at the clinic visit ranged from 2 days to 10 years and 7 months, and averaged 2.54 years. All the 27 patients presented with facial port-wine stains of varied color from light red to purple red, which were all distributed across the facial midline, including 21 with predominantly unilateral port-wine stains and 6 with bilateral symmetrical port-wine stains. There were 17 patients with ocular choroidal vascular malformations, including 14 with congenital glaucoma, 5 with high intraocular pressure, and 1 with optic nerve atrophy accompanied by transient blindness. Neurological impairment occurred in 12 patients, and all manifested as epilepsy. All the 27 children underwent imaging examination, and abnormalities were found in 20. Among the 10 patients with abnormal computed tomography images, local calcification was observed in 8, and local thickening of the skull on the side affected by skin lesions in 8; 13 of 14 patients with abnormal magnetic resonance imaging scan results had signs of brain atrophy, 9 showed enhanced gyrus-like blood vessel formation by enhanced magnetic resonance imaging, and 5 showed decreased branches of the anterior and middle cerebral artery on the affected facial side by magnetic resonance angiography.Conclusions:Children with Sturge-Weber syndrome are clinically characterized by predominantly unilateral port wine stains on the face, some of whom are accompanied by epilepsy, glaucoma or mental retardation, and imaging examinations mainly show local calcification, brain atrophy, local thickening of the skull plate, enhanced gyrus-like blood vessel formation, etc. Early definite diagnosis and comprehensive systemic treatment are needed to reduce disability and mortality rates in patients with Sturge-Weber syndrome, and long-term follow-up should be considered.

Pulsatile varicose veins: an uncommon presentation of a common condition / Varizes pulsáteis: uma apresentação incomum de uma condição comum

Abstract Varicose veins of the lower limbs are common. However, pulsatile varicose veins are unusual. They could be an indicator of a sinister underlying pathology, such as severe cardiac dysfunction. It is easy to miss these rare cases during clinical workup, which can result in futile treatment with potentially dangerous consequences. In this report, we describe 2 cases of pulsatile varicose veins that highlight different etiologies and management strategies for this condition.

Resumo Varizes dos membros inferiores são comuns. Entretanto, varizes pulsáteis são raras, podendo ser indicadoras de uma patologia subjacente sombria como disfunção cardíaca grave. É fácil deixar passar esses casos raros durante exames clínicos, o que pode resultar em tratamento fútil com consequências potencialmente perigosas. Neste relato, descrevemos dois casos de varizes pulsáteis que evidenciam as diferentes etiologias e estratégias de manejo para essa condição.

Dental care challenges in Sturge-Weber syndrome: a case report / Desafios do tratamento odontológico na síndrome de Sturge-Weber: relato de caso

Introduction: Sturge-Weber syndrome (SWS) is a rare condition characterized by facial capillary malformation, involves ocular, neurological, and cutaneous alterations. Associated with unilateral characteristic port-wine stains, gingival growth and purple-red coloration. Aim: his case aims to report dental treatment challenges in patients with SWS and importance of oral health maintenance in these individuals. Case report: a 20-year-old woman with an established diagnosis of SWS, presented bad breath and spontaneous gingival bleeding, with gingival growth and reddish-purple spots spread to labial and alveolar mucosa, tongue, and palate. Conditioning of the patient's oral environment by supra and subgingival scraping, dental unit extraction was performed. A conservative treatment plan was adopted for management adequacy of oral environment owing to possible complications inherent to the condition. Conclusion: it is important to emphasize the importance of dental surgeon's performance in relation to a multidisciplinary health team, as well as cooperation of patient, to obtain better results from the proposed therapy.

Introdução: a síndrome de Sturge-Weber (SSW) é uma condição rara caracterizada por malformação capilar facial, envolve alterações oculares, neurológicas e cutâneas. Associada a manchas unilaterais características do vinho do porto, crescimento gengival e coloração vermelho-púrpura. Objetivo: este caso tem como objetivo relatar desafios do tratamento odontológico em pacientes com SSW e a importância da manutenção da saúde bucal nesses indivíduos. Relato de caso: paciente do sexo feminino, 20 anos, com diagnóstico estabelecido de SSW, apresentou mau hálito e sangramento gengival espontâneo, com crescimento gengival e manchas roxas avermelhadas espalhadas pela mucosa labial e alveolar, língua e palato. Condicionamento do ambiente oral do paciente por raspagem supra e subgengival, foi realizada extração da unidade dental. Foi adotado um plano de tratamento conservador para adequação do manejo do ambiente bucal devido a possíveis complicações inerentes à condição. Conclusão: é importante enfatizar a importância do desempenho do cirurgião-dentista em relação a uma equipe multidisciplinar de saúde, bem como a cooperação do paciente, para obter melhores resultados com a terapia proposta.

Síndrome de Sturge-Weber: revisión de la literatura / Sturge-Weber syndrome: literature review

El síndrome de Sturge-Weber es un trastorno neurocutáneo, congénito, esporádico e infrecuente que afecta aproximadamente a 1 de cada 20 000 a 50 0000 nacidos vivos y que se relaciona con una mutación genética activadora somática en GNAQ. Clínicamente se caracteriza por la presencia de una mácula en vino de Oporto en la piel de territorio trigeminal, angiomatosis leptomeníngea y glaucoma. Puede asociarse a diferentes manifestaciones clínicas, de las cuales las crisis epilépticas representan la manifestación neurológica más frecuente que se asocia a un deterioro cognitivo importante en estos pacientes. En el presente artículo se realiza una revisión descriptiva de la literatura sobre los aspectos etiológicos, fisiopatológicos, de clasificación, clínicos, diagnósticos y del tratamiento del síndrome de Sturge-Weber.

Sturge-Weber syndrome is a rare, sporadic, congenital neurocutaneous disorder affecting approximately 1 in 20,000 to 50,000 live births that is associated with a somatic activating gene mutation in GNAQ. Clinically it is characterized by the presence of a port wine stain on the skin of trigeminal territory, leptomeningeal angiomatosis and glaucoma. It can be associated with different clinical manifestations, of which the epileptic seizures represents the most frequent neurological manifestation associated with significant cognitive impairment in these patients. This article makes a descriptive review of the literature on the etiological, pathophysiological, classification, clinical, diagnostic and treatment aspects of Sturge-Weber syndrome.

Síndrome congénito de Klippel-Trenaunay-Weber: caso clínico / Congenital Klippel-Trenaunay-Weber syndrome: clinical case

RESUMEN: El síndrome de Klippel-Trenaunay-Weber (SKTW) es una enfermedad congénita poco frecuente caracterizada por hipertrofia de un miembro que afecta a los huesos y a las partes blandas, con extensos angiomas planos, várices y otras anomalías vasculares, como fístulas arteriovenosas. Su incidencia es de 1:100.000 personas. El objetivo fue describir un caso raro de SKTW bilateral, confirmado con hallazgos clínicos e imagenológicos en un niño de 9 años de edad, de sexo masculino, con antecedentes de sangrado digestivo bajo, herniorrafía inguinal izquierda y orquidopexia ipsilateral. En ambos miembros inferiores se identificaron lesiones hemangiomatosas e hipertrofia muscular y edema en miembro inferior izquierdo con ausencia de segundo y tercer dedos del pie izquierdo por antecedente quirúrgico de amputación. Adicionalmente, presentaba adenopatías cervicales e inguinales. Dentro de los hallazgos radiográficos importantes, se observó una cortical ósea delgada en el fémur del miembro inferior izquierdo. El SKTW afecta típicamente a los miembros inferiores de forma unilateral; este es un caso infrecuente de afección bilateral (con predominio izquierdo). Algunos pacientes, registran compromiso visceral con hemorragia digestiva baja, además de alteraciones genitourinarias, presentes en el 30% de los casos. La presentación de adenopatías es inusual.

SUMMARY: Klippel-Trenaunay-Weber syndrome (KTWS) is a rare congenital disease characterized by limb hypertrophy affecting bones and soft tissues, with extensive flat angiomas, varicose veins, and other vascular abnormalities, such as arteriovenous fistulas. Its incidence is 1: 100,000 people. The aim of this work was to describe a rare case of bilateral KTWS, confirmed with clinical and imaging findings in a 9-year-old male, with a history of lower gastrointestinal bleeding, left inguinal herniorrhaphy and ipsilateral orchidopexy. In both lower limbs, hemangiomatous lesions and muscle hypertrophy were identified, and in the left lower limb edema was identified with absence of the second and third toes due to a surgical history of amputation. Additionally, the patient presented cervical and inguinal lymphadenopathy. Among the important radiographic findings, in the left lower limb femur a thin bony cortex was observed. KTWS typically affects the lower limbs unilaterally; this is an infrequent case of bilateral affection (predominantly left). Some patients have visceral involvement with lower gastrointestinal bleeding, as well as genitourinary alterations, present in 30 % of cases. The presentation of lymphadenopathy is unusual.

Síndrome de Sturge Weber, triada clásica desde un enfoque genético, molecular y fisiopatológico / Sturge Weber Syndrome, Classic Triad From A Genetic, Molecular And Physiological Approach

El síndrome de Sturge Weber (SSW) se caracteriza por el compromiso clásico de malformaciones vasculares neuro oculocutáneas esporádicas, cuya fisiopatología hasta la fecha no se ha podido dilucidar del todo. El descubrimiento de un perfil molecular tanto arterial como venoso en el endotelio presente en las malformaciones vasculares aunado a zonas de atresia vascular distales a las zonas ectasicas, han llevado a cuestionar las teorías embriológicas planteadas desde hace décadas, para explorar las características moleculares y genéticas en el tejido afectado. A la actualidad se ha reportado una elevada prevalencia de la mutación somática en el gen GNAQ en los tejidos afectados de los pacientes con SSW el cual codifica una subunidad alfa de una proteína Gq, cuya cascada de señalización estimula la proliferación celular, pudiendo esta ser responsable del crecimiento sostenido de las malformaciones de las tres regiones mencionadas. El presente estudio se propone a explicar las manifestaciones clínicas clásicas del SSW desde un enfoque genético, molecular y fisiopatológico.

Sturge Weber syndrome (SSW) is characterized by the classic involvement of sporadic neuro-oculo-cutaneous vascular malformations, the pathophysiology of which to date has not been fully elucidated.The discovery of both an arterial and venous molecular profile in the endothelium present in vascular malformations, together with vascular atresia zones distal to the ectatic zones, have led to questioning the embryological theories put forward for decades, to explore the molecular and genetic characteristics in the affected tissue.Currently, a high prevalence of somatic mutation in the GNAQ gene has been reported in the affected tissues of patients with SSW, which encodes an alpha subunit of a Gq protein, whose signaling cascade stimulates cell proliferation, which may be responsible of the sustained growth of malformations in the three mentioned regions. The present study aims to explain the classic clinical manifestations of SSW from a genetic, molecular and pathophysiological perspective.

Síndrome Sturge-Weber. Revisión de la literatura a propósito de un caso / Sturge-Weber syndrome. Literature review about a case / Síndrome de Sturge-Weber. Revisão de literatura sobre um caso

RESUMEN Introducción: Entre las hamartoblastosis se reconoce el síndrome de Sturge-Weber (SSW), cuyo diagnóstico es inusual y complejo su tratamiento. Objetivo: Socializar la experiencia en la atención a un paciente pediátrico con síndrome de Sturge-Weber en el Hospital Pediátrico Docente "General Pedro Agustín Pérez" de Guantánamo. Método: Se presentó un paciente preescolar, sin antecedentes familiares de interés. Al mes de nacido fue operado de glaucoma congénito. Durante el primer año de vida presentó retardo del desarrollo psicomotor y movimientos involuntarios considerados convulsiones tónico-clónicas. Se revisó la literatura para transmitir a la comunidad médica, de modo particular, a estudiantes de medicina y médicos generales, información para lograr un diagnóstico y un seguimiento adecuado de esta afección. Resultados: Según las manifestaciones clínicas, examen físico mediante el método clínico y los resultados de los exámenes complementarios, se planteó el diagnóstico de síndrome neurocutáneo, de modo particular un SSW. Se aplicó tratamiento con diazepam y al persistir la crisis, fenitoína. La primera clasificación de los síndromes neurocutáneos la realizó Jan Van der Hoeve, que acuñó el término facomatosis. Es un trastorno neurológico congénito, no hereditario aunque hay descrito casos familiares, poco común pero frecuente respecto a otros síndromes neurocutáneos. Se estima una incidencia de 5 x 100,000 nacidos vivos. Afecta a todos los grupos étnicos y ambos sexos. Conclusiones: No siempre hay relación entre la gravedad de las manifestaciones cutáneas, neurológicas y oculares del SSW con las alteraciones cerebrales. Es importante el examen físico para establecer el diagnóstico oportuno y evitar futuras secuelas y complicaciones.

ABSTRACT Introduction: Sturge-Weber syndrome (SSW) is recognized among hamartoblastosis, whose diagnosis is unusual and complex treatment. Objective: To socialize the experience in the care of a pediatric patient with Sturge-Weber syndrome at the "General Pedro Agustín Pérez" Pediatric Teaching Hospital in Guantanamo. Method: A preschool patient was presented, with no family history of interest. One month after birth, he underwent congenital glaucoma surgery. During the first year of life he presented retardation of psychomotor development and involuntary movements considered tonic-clonic seizures. Literature was reviewed to transmit to the medical community, in particular, to medical students and general practitioners, information to achieve a diagnosis and adequate follow-up of this condition. Results: According to the clinical manifestations, physical examination by means of the clinical method and the results of the complementary examinations, the diagnosis of neurocutaneous syndrome was proposed, in particular a SSW. Treatment with diazepam was applied and when the crisis persisted, phenytoin. The first classification of neurocutaneous syndromes was carried out by Jan Van der Hoeve, who coined the term phacomatosis. It is a congenital neurological disorder, not inherited although there have been family cases described, uncommon but frequent compared to other neurocutaneous syndromes. An incidence of 5 x 100,000 live births is estimated. It affects all ethnic groups and both sexes. Conclusions: There is not always a relationship between the severity of cutaneous, neurological and ocular manifestations of SSW with brain disorders. The physical examination is important to establish the timely diagnosis and avoid future sequelae and complications.

RESUMO Introdução: A síndrome de Sturge-Weber (SSW) é reconhecida entre as hamartoblastose, cujo diagnóstico é tratamento incomum e complexo. Objetivo: Socializar a experiência no atendimento de um paciente pediátrico com síndrome de Sturge-Weber no Hospital Pediátrico "General Pedro Agustín Pérez" em Guantánamo. Método: Foi apresentado um paciente pré-escolar, sem histórico familiar de interesse. Um mês após o nascimento, ele foi submetido a uma cirurgia de glaucoma congênito. Durante o primeiro ano de vida, apresentou retardo no desenvolvimento psicomotor e movimentos involuntários considerados convulsões tônico-clônicas. A literatura foi revisada para transmitir à comunidade médica, em particular aos estudantes de medicina e clínicos gerais, informações para obter um diagnóstico e acompanhamento adequado dessa condição. Resultados: De acordo com as manifestações clínicas, o exame físico por meio do método clínico e os resultados dos exames complementares, foi proposto o diagnóstico de síndrome neurocutânea, em particular um SSW. O tratamento com diazepam foi aplicado e, quando a crise persistiu, fenitoína. A primeira classificação das síndromes neurocutâneas foi realizada por Jan Van der Hoeve, que cunhou o termo facomatose. É um distúrbio neurológico congênito, não herdado, embora haja casos familiares descritos, incomum, mas frequente em comparação com outras síndromes neurocutâneas. É estimada uma incidência de 5 x 100.000 nascidos vivos. Afeta todos os grupos étnicos e ambos os sexos. Conclusões: Nem sempre existe relação entre a gravidade das manifestações cutâneas, neurológicas e oculares da SSW com distúrbios cerebrais. O exame físico é importante para estabelecer o diagnóstico oportuno e evitar futuras sequelas e complicações.

Síndrome de Klipper-Trenaunay-Weber con compromiso vesical y uterino tratado por vía endoscópica y endovascular / Klippel-Trenaunay-Weber syndrome with vesical and uterine involvement treated by endoscopic and endovascular routes

El síndrome de Klippel-Trenaunay-Weber (SKTW) es una rara malformación venosa que, en general afecta a los miembros inferiores y, más raramente, a los superiores. Se caracteriza por formaciones angiomatosas cutáneas, várices e hipertrofia del miembro afectado. El compromiso genitourinario es sumamente infrecuente. Se presenta el caso de una paciente de 14 años. Ingresó por hematuria macroscópica de 48 h de evolución y metrorragia con grave compromiso hemodinámico. Se encontraba en estudio por presentar un hemangioma en el miembro inferior izquierdo que se extendía hasta la región pelviana. La uretrocistofibroscopía demostró la presencia de múltiples lesiones angiomatosas diseminadas en forma amplia en la vejiga, algunas de ellas con sangrado activo. La angioresonancia mostró una voluminosa formación hipervascularizada en contacto con la pared vesical a la cual desplazaba y fístulas arteriovenosas a nivel pelviano y en el miembro inferior izquierdo confirmando el diagnóstico etiológico. Se realizó una embolización arterial selectiva de los territorios ilíacos interno y externo e inmediatamente después una endocoagulación láser de los focos angiomatosos sangrantes. La hematuria remitió completamente en las 24 h posteriores al procedimiento. La metrorragia asociada al SKTW fue controlada mediante la utilización de análogos LHRH y progestágenos.

Klippel-Trenaunay-Weber syndrome (KTWS) is a rare venous malformation that generally affects the lower limbs and, more infrequently, the upper limbs. It is characterized by cutaneous angiomatous formations, varicose veins and hypertrophy of the affected limb. The involvement of the genitourinary tract is extremely infrequent. We expose the case of a 14 years old female patient who was admitted for macroscopic hematuria of 48 hours of evolution and metrorrhagia with severe hemodynamic decompensation. The patient was under study for presenting a hemangioma in the lower left limb that extended to the pelvic region. Urethrocystofibroscopy showed the presence of multiple wide-spread angiomatous lesions in the bladder, some of them with active bleeding. The angio-resonance showed a voluminous hypervascular formation in contact with the bladder wall showing several arteriovenous fistulas at the pelvic level and in the left lower limb confirming the etiological diagnosis. A selective arterial embolization of the internal and external iliac territories was performed and then, a laser endocoagulation of the bleeding angiomatous foci was carried out. The hematuria completely stopped within 24 hours later of the procedure. The metrorrhagia associated with KTWS was controlled by the use of LHRH analogs and progestogens.

Inverse klippel-trenaunay syndrome / Síndrome de klippel-trenaunay inverso

ABSTRACT Objective: To report a rare case of inverse Kipplel-Trenaunay. Case description: A 16-year-old girl with a grayish-depressed plaque on her left thigh. Angioresonance showed a vascular malformation affecting the skin and subcutaneous tissue. Comments: Inverse Klippel-Trenaunay is a Klippel-Trenaunay syndrome variation in which there are capillary and venous malformations associated to hypotrophy or shortening of the affected limb. Modifications on the limb's length or width result from alterations in bones, muscles, or subcutaneous tissues. It has few described cases. Further clinical and molecular studies must be performed for a proper understanding.

RESUMO Objetivo: Relatar um caso raro de Klippel-Trenaunay inverso. Descrição do caso: Menina de 16 anos com placa deprimida acinzentada na coxa esquerda, evidenciando-se, por meio de angioressonância, uma malformação vascular, acometendo a pele e tecidos subcutâneos. Comentários: Klippel-Trenaunay inverso é uma variante da síndrome de Klippel-Trenaunay em que há malformação capilar e venosa associada à hipotrofia ou encurtamento do membro afetado. Pode envolver acometimento ósseo, muscular ou subcutâneo, modificando o comprimento ou a circunferência do membro. Há poucos casos descritos, e mais estudos clínicos e moleculares precisam ser realizados para seu correto entendimento.

Síndrome de Klippel Trenaunay Weber y embarazo / Klippel Trenaunay Weber Syndrome and Pregnancy

RESUMEN Introducción: El síndrome de Klippel Trenaunay Weber es una enfermedad vascular congénita, de causas desconocidas, caracterizada por hemangiomas planos, crecimiento excesivo de huesos y tejido blando, y venas varicosas. Cuando se asocia al embarazo incrementa la morbilidad y mortalidad materna y fetal. Objetivo: Describir dos casos clínicos de gestantes con este síndrome las cuales fueron atendidas en el Hospital Ginecobstétrico Docente "Ramón González Coro" en La Habana, Cuba. Métodos: Estudio descriptivo, retrospectivo, de dos casos mediante técnica de recolección de información, análisis de la historia clínica y búsqueda de literatura actualizada. El mismo se efectuó conforme a las reglamentaciones y principios éticos existentes para la investigación en humanos. No fue necesario que las pacientes ofrecieran su consentimiento informado. Presentación de casos: Los dos casos presentados fueron gestantes adolescentes a las cuales se les dio seguimiento en consulta multidisciplinaria y se les realizó cesárea a las 38 semanas, la primera por riesgo de sangrado por las varicosidades pelvianas y la segunda por indicación neurológica. Se obtuvieron en ambos casos recién nacidos femeninos, de 2620 y 3200 gramos respectivamente y en buenas condiciones. Conclusiones: Debe realizarse una correcta anamnesis durante los controles prenatales para identificar los factores de riesgo que se relacionan con esta entidad que es poco frecuente, pero está relacionada con una gran morbilidad. Es indispensable la actuación en equipo y la evaluación integral de estos casos por un grupo especializado de angiólogos, ginecobstetras, anestesistas, cirujanos, clínicos, y de otras especialidades, para lograr un resultado óptimo(AU)

ABSTRACT Introduction: Klippel Trenaunay Weber syndrome is a congenital vascular disease, of unknown causes, characterized by flat hemangiomas, overgrowth of bones and soft tissue, and varicose veins. When associated with pregnancy, it increases maternal and fetal morbidity and mortality. Objective: To describe two clinical cases of pregnant women with this syndrome, which were treated at the Ramón González Coro Gynecobstetric Teaching Hospital in Havana, Cuba. Methods: A descriptive, retrospective study of two cases using the information collection technique, analysis of the medical history, and search for updated literature. It was carried out in accordance with existing regulations and ethical principles for human research. Patients were not required to offer their informed consent. Case reports: The two cases presented were pregnant adolescents who were followed up in a multidisciplinary consultation and underwent caesarean section at 38 weeks, the first due to risk of bleeding as result of pelvic varicosities and the second due to neurological indication. In both cases, female newborns, 2620 and 3200 grams respectively, were obtained in good conditions. Conclusions: Correct anamnesis must be carried out during prenatal controls to identify the risk factors that are related to this entity, which is rare, but is related to high morbidity. Team action and comprehensive evaluation of these cases, by a specialized group of angiologists, gynecologists, anesthetists, surgeons, clinicians, and other specialties, are essential to achieve an optimal result(AU)

Retinal vascular abnormalities in Sturge-Weber syndrome

Sturge–Weber syndrome (SWS) includes facial, leptomeningeal and choroidal hemangioma. The retinal vasculature is essentially normal. Rare cases of retinal vascular tortuosity and arterio-venous malformations have been reported. We report two cases with rare concomitant retinal vascular abnormalities along with SWS. Both the patients had nevus flammeus, hemifacial hypertrophy, and choroidal hemangioma. In one case, retinal cavernous hemangioma was seen in the affected eye. The other case revealed retinal neovascularization secondary to proliferative diabetic retinopathy in the eye with choroidal hemangioma.

Sturge-Weber Syndrome – A Case Report

Encephalo-trigeminal angiomatosis otherwise known as struge Weber syndrome is characterised by port-wine stain. Here wereport a case with typical charecteristics of the same and description about the patients clinical presentations

Síndrome de Klippel-Trenaunay en un recién nacido / Klippel-Trenaunay Syndrome in a newborn

Se describe el caso clínico de un recién nacido, asistido en el Hospital General Docente Dr Juan Bruno Zayas Alfonso de Santiago de Cuba, sin antecedentes patológicos maternos ni familiares, quien presentaba macrocefalia, asimetría de los miembros inferiores, marcada hipertrofia en el miembro inferior izquierdo y macrodactilia, así como angiomas cutáneos en el área inferior del tronco, en el abdomen, la región glútea y las piernas. Luego de una evaluación detallada por parte de un equipo multidisciplinario, que se basó en el cuadro clínico y el estudio radiográfico, se diagnosticó el síndrome de Klippel-Trenaunay. El paciente ha mantenido una evolución favorable hasta el momento actual y se continúa un estricto seguimiento médico.

The case report of a newborn, assisted in Dr Juan Bruno Zayas Alfonso Teaching General Hospital in Santiago de Cuba is described, without maternal or family pathological history who presented macrocephalic asymmetry of the lower members, marked hypertrophy in the left low member and macrodactilia, as well as cutaneous angiomas in the lower area of the trunk, abdomen, buttocks region and legs. After a detailed evaluation by a multidisciplinary team which was based on the clinical pattern and radiographical study, the Klippel-Trenaunay syndrome was diagnosed. The patient has maintained a favorable clinical course up to now and a strict medical follow-up is carried out.

Thrombosis of a Long-Segment Aneurysm from the Iliac to Popliteal Artery Associated with Arteriovenous Malformation and Varicose Veins

A 58-year-old male patient with severe claudication due to thrombosis of the left ilio-femoro-popliteal artery aneurysm. He also had a venous stasis ulcer with a history of multiple embolotherapy of arteriovenous malformation. Duplex sonography revealed reflux and varicose veins of the left great saphenous vein (GSV). A sequential bypass surgery was performed that consisted of excision of the left external iliac and common femoral artery aneurysm, external iliac to deep femoral interposition with an expanded polytetrafluoroethylene graft, and femoro-posterior tibial artery bypass with the reversed left GSV. Symptoms of claudication were alleviated and the chronic ulcer was healed in time. To our knowledge, this is the first report of successful bypass in a patient with arterial aneurysm, arteriovenous malformation, and venous insufficiency that can be diagnosed as an atypical case of Parkes Weber syndrome. Long-term follow-up is needed to define the fate of aneurysms and varicose vein graft.

Utilidad del método clínico en el diagnóstico de algunos síndromes genéticos / Use fulness of the clinical method for diagnosing a group of clinical syndromes

Introducción: El método científico es un método general, constituido por varias etapas necesarias en el desarrollo de toda investigación científica. Es la forma de abordar la realidad y estudiar los fenómenos de la naturaleza, para descubrir su esencia y sus interrelaciones. El método clínico es la aplicación particular del método científico en el ejercicio de la práctica médica, y en las condiciones económicas actuales prevalecientes a nivel mundial resulta de inestimable valor su aplicación por las ventajas que reporta desde ese punto de vista, así como también por el bienestar del paciente que no es sometido a innecesarios y costosos procedimientos diagnósticos. Objetivo: Proporcionar al personal médico los criterios clínicos para lograr, mediante el uso del método clínico, el diagnóstico de algunos síndromes genéticos; los que han sido elaborados luego de una exhaustiva delineación clínica de estos. Métodos: Se realizó una revisión de los textos básicos de genética clínica y sindromología con independencia del año de su publicación y se realizó una búsqueda en las bases de datos Medline, Lilacs y Cochrane en el periodo comprendido entre 2012 y 2016. Conclusiones: Fueron reflejados los criterios establecidos para el diagnóstico clínico de catorce síndromes genéticos(AU)

Introduction: The scientific method is a general method which consists of several stages necessary for the development of all scientific research. It is the way to approach reality and to study the phenomena of nature, to discover their essence and interrelations. The clinical method is the particular application of the scientific method in the medical practice, and in the current economic conditions prevailing worldwide, its application is of inestimable value because of the advantages it brings from that point of view, as well as for the well-being of the patient, who would not be subjected to unnecessary and expensive diagnostic procedures. Objective: To provide the medical personnel with the clinical criteria to achieve, through the use of the clinical method, the diagnosis of some genetic syndromes. Such criteria have been elaborated after an exhaustive clinical description of those conditions. Methods: A review of basic texts of clinical genetics and syndromology was carried out regardless the year of publication. A search was carried out in the databases Medline, Lilacs and Cochrane, in the period between 2012 and 2016. Conclusions: The criteria established for the clinical diagnosis of fourteen genetic syndromes have been presented(AU)